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COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
肌萎缩侧索硬化症1型
USH2A c.8559-2A>G
囊性纤维化
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中文
非罕见病
Retroperitoneal Fibrosis
Alias:
Idiopathic Retroperitoneal Fibrosis
Ormond Disease
Rpf - [retroperitoneal Fibrosis]
Ormond's Disease
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基础信息
疾病表征
基因 & 突变
靶点药物
疾病模型
文献报道
腹膜后纤维化,又称为特发性腹膜后纤维化,与结节病1和组织细胞增多症有关。与腹膜后纤维化相关的基因是MDM2(MDM2原癌基因),其相关通路/超级通路包括肺纤维化。在该疾病的背景下提到了泼尼松和泼尼松醋酸酯。附属组织包括肾脏和心脏,相关表型为免疫系统和呼吸系统。
Related ID:
MALACARDS:RTR011
ICD11:161159769
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
成年期
--
9
112
--
RTR011
Medical Symptom
#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available
Gene & Mutation
#
Gene
Function
Score
Mutations
No data available
Related Drugs
Name
CAS Number
Status
Phase
No data available
Disease Model
Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available
References Literature
Title
PMID
Journal
Year
IF
No Data Found!
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